Variant report

Variant	rs3119857
Chromosome Location	chr13:61331285-61331286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1159428	1.00[EUR][1000 genomes]
rs2090088	1.00[EUR][1000 genomes]
rs2102666	0.99[EUR][1000 genomes]
rs2221964	1.00[EUR][1000 genomes]
rs3119856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3119858	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3119865	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817223	chr13:60623429-61453435	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv900241	chr13:61217896-61368021	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832623	chr13:61303818-61468576	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1037954	chr13:61319533-61395907	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv561866	chr13:61328813-61388794	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3119857	UQCR10	trans	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61327800-61331600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:61328200-61334400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:61329000-61333600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr13:61329000-61334000	Enhancers	Fetal Brain Male	brain
5	chr13:61329600-61332200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:61330200-61334600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:61330400-61331400	Enhancers	Right Atrium	heart
8	chr13:61330400-61331800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:61330400-61334200	Enhancers	Fetal Brain Female	brain
10	chr13:61330400-61335000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:61330600-61331600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:61330600-61331800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:61330600-61332400	Weak transcription	NHEK	skin
14	chr13:61330600-61334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:61330800-61331600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr13:61330800-61331800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:61330800-61331800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:61330800-61331800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:61330800-61331800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:61330800-61332000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:61330800-61332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:61330800-61333200	Weak transcription	HUVEC	blood vessel
23	chr13:61330800-61333600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr13:61330800-61333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:61330800-61334400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:61331000-61331400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:61331000-61331400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:61331000-61331600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr13:61331000-61333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:61331200-61332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:61331200-61333600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:61331200-61334600	Enhancers	Fetal Heart	heart

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